DisGeNET - a database of gene-disease associations

List of associated variants

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, C3806402

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1555483699	GRIN2A	0.851	0.120	16	9768994	missense variant	C/T	snv			10
rs796052551	GRIN2A	0.882	0.040	16	9768997	missense variant	T/C	snv			3
rs869312681	GRIN2A	1.000		16	9763169	missense variant	T/C	snv			3
rs1250662891	GRIN2A	0.925	0.040	16	10180176	missense variant	G/C	snv	4.0E-06		2
rs1555482933	GRIN2A	0.925	0.040	16	9764834	missense variant	T/A	snv			2
rs1555491648	GRIN2A	0.925	0.040	16	9822337	missense variant	G/A	snv			2
rs1555496111	GRIN2A	0.925	0.040	16	9849778	missense variant	A/G	snv			2
rs397518447	GRIN2A	0.925	0.040	16	9829585	missense variant	G/T	snv			2
rs397518465	GRIN2A	0.925	0.040	16	9937958	splice donor variant	C/A;T	snv			2
rs751455326	GRIN2A	1.000		16	9768993	missense variant	G/A;T	snv	4.0E-06		2
rs796052549	GRIN2A ; LOC105371077	0.925	0.040	16	9798442	missense variant	C/G;T	snv			2
rs1555488144	LOC105371077 ; GRIN2A	0.925	0.040	16	9798454	missense variant	C/T	snv			2
rs1057524089	GRIN2A	1.000		16	9938479	stop gained	G/A	snv			1
rs1060503228	GRIN2A	1.000		16	9834148	stop gained	G/C	snv			1
rs1360906241	GRIN2A	1.000		16	9840788	missense variant	G/A	snv			1
rs1445802934	GRIN2A	1.000		16	9822363	missense variant	G/A	snv	4.0E-06		1
rs1555492758	GRIN2A	1.000		16	9829494	missense variant	T/C	snv			1
rs1555492769	GRIN2A	1.000		16	9829529	stop gained	C/T	snv			1
rs1555493585	GRIN2A	1.000		16	9834209	stop gained	C/G;T	snv			1
rs199528312	GRIN2A	1.000		16	9938097	missense variant	G/A	snv	3.6E-05	1.4E-05	1
rs387906637	GRIN2A	1.000		16	9938314	stop gained	G/A	snv			1
rs397514557	GRIN2A	1.000		16	9829485	missense variant	G/C	snv			1
rs397518450	GRIN2A	1.000		16	9834227	missense variant	G/C	snv			1
rs397518466	GRIN2A	1.000		16	10180410	start lost	A/G	snv			1
rs397518467	GRIN2A	1.000		16	9764715	stop gained	G/C	snv			1